/autosomal recessive Parkinson disease 14

autosomal recessive Parkinson disease 14

Rare Disease

MONDO:0013060

Also Known As

PARK14PLA2G6 hereditary late onset Parkinson diseasePLA2G6-related dystonia-parkinsonismautosomal recessive Parkinson disease type 14dystonia-Parkinsonism Adult-onsetdystonia-parkinsonism, Paisan-Ruiz typehereditary late onset Parkinson disease caused by mutation in PLA2G6Parkinson disease 14, autosomal recessiveadult-onset dystonia - parkinsonismautosomal recessive Parkinson's disease 14dystonia-Parkinsonism, adult-onset

Definition

A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.